Linked Data
dbSNP Id:
rs17005598
gnomAD v2:
12-79834733-G-A
gnomAD v3:
12-79440953-G-A
gnomAD v4:
12-79440953-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.79440953G>A , CM000674.2:g.79440953G>A | GRCh38 |
| NC_000012.11:g.79834733G>A , CM000674.1:g.79834733G>A | GRCh37 |
| NC_000012.10:g.78358864G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704696.1:c.929-3120G>A | ENSP00000515993.1:n.929-3120G>A | |
| ENST00000704697.1:c.981-3120G>A | ENSP00000515994.1:n.981-3120G>A | |
| ENST00000704698.1:c.-23-3120G>A | ENSP00000515995.1:n.-23-3120G>A | |
| ENST00000704699.1:c.920-3120G>A | ENSP00000515996.1:n.920-3120G>A | |
| ENST00000704700.1:c.929-3120G>A | ENSP00000515997.1:n.929-3120G>A | |
| ENST00000704702.1:c.929-3120G>A | ENSP00000515999.1:n.929-3120G>A | |
| ENST00000704703.1:c.764-3120G>A | ENSP00000516000.1:n.764-3120G>A | |
| ENST00000704704.1:c.929-3120G>A | ENSP00000516001.1:n.929-3120G>A | |
| ENST00000704705.1:c.929-3120G>A | ENSP00000516002.1:n.929-3120G>A | |
| ENST00000704706.1:c.929-3120G>A | ENSP00000516003.1:n.929-3120G>A | |
| ENST00000704707.1:c.*916-3120G>A | ENSP00000516004.1:n.*916-3120G>A | |
| ENST00000704708.1:c.929-3120G>A | ENSP00000516005.1:n.929-3120G>A | |
| ENST00000704709.1:c.920-3120G>A | ENSP00000516006.1:n.920-3120G>A | |
| ENST00000704710.1:c.929-3120G>A | ENSP00000516007.1:n.929-3120G>A | |
| ENST00000704711.1:c.929-3120G>A | ENSP00000516008.1:n.929-3120G>A | |
| ENST00000704714.1:c.929-3120G>A | ENSP00000516009.1:n.929-3120G>A | |
| ENST00000704716.1:c.920-3120G>A | ENSP00000516011.1:n.920-3120G>A | |
| ENST00000704718.1:c.929-3120G>A | ENSP00000516013.1:n.929-3120G>A | |
| ENST00000261205.9:c.929-3120G>A MANE Select | ENSP00000261205.4:n.929-3120G>A | |
| ENST00000261205.8:c.929-3120G>A | ENSP00000261205.4:n.929-3120G>A | |
| ENST00000393240.7:c.929-3120G>A | ENSP00000376932.3:n.929-3120G>A | |
| ENST00000457153.6:c.920-3120G>A | ENSP00000391056.2:n.920-3120G>A | |
| ENST00000552744.5:c.929-3120G>A | ENSP00000447575.1:n.929-3120G>A | |
| NM_001135805.1:c.929-3120G>A | NP_001129277.1:n.929-3120G>A | |
| NM_001135806.1:c.929-3120G>A | NP_001129278.1:n.929-3120G>A | |
| NM_001291901.1:c.920-3120G>A | NP_001278830.1:n.920-3120G>A | |
| NM_005639.2:c.929-3120G>A | NP_005630.1:n.929-3120G>A | |
| XM_005269113.2:c.920-3120G>A | XP_005269170.1:n.920-3120G>A | |
| XM_006719576.1:c.920-3120G>A | XP_006719639.1:n.920-3120G>A | |
| XM_011538710.1:c.929-3120G>A | XP_011537012.1:n.929-3120G>A | |
| XM_005269113.3:c.920-3120G>A | XP_005269170.1:n.920-3120G>A | |
| XM_011538710.2:c.929-3120G>A | XP_011537012.1:n.929-3120G>A | |
| NM_005639.3:c.929-3120G>A MANE Select | NP_005630.1:n.929-3120G>A | |
| NM_001135805.2:c.929-3120G>A | NP_001129277.1:n.929-3120G>A | |
| NM_001135806.2:c.929-3120G>A | NP_001129278.1:n.929-3120G>A | |
| NM_001291901.2:c.920-3120G>A | NP_001278830.1:n.920-3120G>A |